R6S (p.Arg6Ser) variant of CNTNAP2 (Q9UHC6)
R6S (p.Arg6Ser) in CNTNAP2 (Q9UHC6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R6S (p.Arg6Ser) variant details
- p.Arg6Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.18
- CADD 18.50
- PolyPhen-2 0.02
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available